Overlapping Leigh Syndrome/Myoclonic Epilepsy With Ragged Red Fibres in an Adolescent Patient With a Mitochondrial DNA A8344G Mutation

door Shen, Cunzhou, Xian, Wenbiao, Zhou, Hongyan, Li, Xunhua, Liang, Xiuling, Chen, Ling
Gepubliceerd in Front Neurol (2018)

Clinical and Physiological Significance of F-Wave in Spinocerebellar Ataxia Type 3

door Cai, Qiong, Xu, Wenxiao, Liao, Songjie, Liang, Yinxing, Wu, Chao, Li, Xunhua
Gepubliceerd in Front Neurol (2020)

Co‐occurrence of ATXN3 and ATXN2 repeat expansions in Chinese ataxia patients with slow saccades

door Wu, Chao, Cai, Qiong, You, Huajing, Zhou, Xiangxue, Chen, Dingbang, Mo, Guiling, Li, Xunhua
Gepubliceerd in Mol Genet Genomic Med (2019)

Clinical efficacy of combined sodium dimercaptopropanesulfonate and zinc treatment in neurological Wilson’s disease with D-penicillamine treatment failure

door Chen, Dingbang, Zhou, Xiangxue, Hou, Haiman, Feng, Li, Liu, JunXiu, Liang, Yinyin, Lin, Xiaopu, Zhang, Jiwei, Wu, Chao, Liang, Xiuling, Pei, Zhong, Li, Xunhua
Gepubliceerd in Ther Adv Neurol Disord (2016)

Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly...

door Banerjee, Santasree, Chen, Huishuang, Huang, Hui, Wu, Jing, Yang, Zhiyun, Deng, Weiping, Chen, Dongna, Deng, Jianlian, Su, Yan, Li, Yang, Wu, Chao, Wang, Ye, Zeng, Hao, Wang, Yiming, Li, Xunhua
Gepubliceerd in Oncotarget (2016)